A New Dawn in Disease Diagnosis - European Medical Journal

A New Dawn in Disease Diagnosis

1 Mins

MULTIPLE MYELOMA is a highly complex haematological cancer that can be caused by a variation of genetic mutations; however, researchers from the Huntsman Cancer Institute, University of Utah, Salt Lake City, Utah, USA, have identified two gene regions that might potentially play a pivotal role in the development of the disease.

The use of human pedigrees has enabled researchers to trace back disease-affected individuals through several generations of families, allowing the identification of many different genetic mutations that are attributed to a range of disorders; however, the method is often limited to simple diseases triggered by a single genetic mutation. The research team, led by Prof Nicola Camp, Huntsman Cancer Institute, aimed to develop a novel method of using human pedigrees to study complex diseases and identify a potential cause behind the development of multiple myeloma.

The researchers studied 11 human pedigrees, whose family trees were large, multi-generational, and considered to be at a high risk of developing cancerous disease because they had a higher number of multiple myeloma cases than would be expected to develop by chance. This new shared genomic segment methodology of analysing human pedigrees highlighted a 1.8 Mb section of DNA located on chromosome 6 with deleterious variants of USP45, a gene involved in DNA repair. The analysis also identified a 1.2 Mb sequence located on chromosome 1 encoding variants of ARID1A, a gene with critical involvement in the regulation of chromatin and the packaging of DNA. Variations in both genes were identified as key contributors to the development and progression of multiple myeloma.

The identification of two key genetic contributors to the increased risk of multiple myeloma offers new targets for screening and treatment and may enable earlier diagnoses of the condition. The success of shared genomic segment identification of mutations in multiple myeloma provides hope for the exploration of the genetic root behind a number of complex disorders, including diabetes and obesity. Prof Camp commented: “We are already pursuing large pedigrees in several other domains, including other cancers, psychiatric disorders, birth defects, and pre-term birth phenotypes, with several more genome-wide significant regions found.”

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